RGD:12743249 Rat Genome Database

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Variant: RGD:12743249 -  Homo sapiens

RGD ID: 12743249
RS ID: rs774394132
ClinVar ID: CV361657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 138,656,870
GRCh38 9 135,765,024
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033070.1:g.67840C>T
NC_000009.12:g.135765024C>T
NC_000009.11:g.138656870C>T
NM_020822.3:c.1036-7C>T
More...
01/01/2020 intron variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNT1
Accession:NM_020822
Location:INTRON

Gene Symbol:KCNT1
Accession:NM_001272003
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518878
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518879
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518880
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_011518881
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014933
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014931
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_017014932
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447618
Location:INTRON

Gene Symbol:KCNT1
Accession:XM_024447617
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000416217 CLINVAR
dbSNP (RS) rs774394132 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KCNT1 CLINVAR
OMIM 608167 CLINVAR